Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 20 35 1.000 definitive 1.000 46 8 1993 2019
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.400 None 0.960 25 6 2003 2019
Familial thoracic aortic aneurysm and aortic dissection
disease Disease or Syndrome 59 442 0.600 definitive 1.000 22 12 2005 2019
Malignant neoplasm of colon and/or rectum
disease Neoplastic Process 3669 502 0.100 None 0.947 19 1 2003 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.100 None 0.882 17 2 1999 2019
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 130 1012 0.200 None 1.000 17 1 2006 2019
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.100 None 0.875 16 2 1999 2019
CUI: C4551955
Disease: Loeys-Dietz Syndrome, Type 1a
Loeys-Dietz Syndrome, Type 1a
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 5 10 0.700 None 1.000 12 9 2005 2016
Squamous cell carcinoma of the head and neck
disease Neoplasms Neoplastic Process 1543 348 0.090 None 1.000 9 2007 2018
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.090 None 1.000 9 1999 2019
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 3926 712 0.070 None 1.000 7 2003 2019
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease Disease or Syndrome 1075 276 0.070 None 0.857 7 2007 2011
Loeys-Dietz Aortic Aneurysm Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 5 0.730 None 1.000 7 2005 2012
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis
disease Musculoskeletal Diseases Disease or Syndrome 1827 247 0.060 None 1.000 6 2007 2019
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver
disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 1179 64 0.350 None 1.000 6 2005 2019
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
disease Neoplasms; Male Urogenital Diseases Neoplastic Process 4502 1082 0.060 None 0.667 6 1998 2019
Multiple self-healing squamous epithelioma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6 0.560 None 1.000 6 1997 2018
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
disease Neoplasms; Male Urogenital Diseases Neoplastic Process 4388 1168 0.060 None 0.667 6 1998 2019
CUI: C0011644
Disease: Scleroderma
Scleroderma
disease Skin and Connective Tissue Diseases Disease or Syndrome 316 5 0.050 None 0.800 5 2004 2007
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma
disease Skin and Connective Tissue Diseases Disease or Syndrome 979 287 0.250 None 0.800 5 2004 2007
CUI: C0162871
Disease: Aortic Aneurysm, Abdominal
Aortic Aneurysm, Abdominal
disease Cardiovascular Diseases Disease or Syndrome 586 90 0.150 None 1.000 5 2009 2012
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 3720 652 0.050 None 1.000 5 2 1999 2019
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
disease Digestive System Diseases; Neoplasms Neoplastic Process 3806 615 0.040 None 1.000 4 2 1999 2019
Conventional (Clear Cell) Renal Cell Carcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2346 222 0.040 None 1.000 4 2016 2019
Malignant neoplasm of urinary bladder
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2113 316 0.030 None 0.333 3 1 2003 2009